Canonical Allele Identifier: CA2739973650

Gene: NAPRT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143574933G>A , CM000670.2:g.143574933G>A	GRCh38
NC_000008.10:g.144657103G>A , CM000670.1:g.144657103G>A	GRCh37
NC_000008.9:g.144728246G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449291.7:c.1555-33C>T MANE Select	ENSP00000401508.2:n.1555-33C>T
ENST00000340490.7:c.1607C>T	ENSP00000341136.3:p.Pro536Leu
ENST00000426292.7:c.1516-33C>T	ENSP00000390949.3:n.1516-33C>T
ENST00000435154.7:c.*231C>T	ENSP00000405670.3:n.*231C>T
ENST00000449291.6:c.1555-33C>T	ENSP00000401508.2:n.1555-33C>T
ENST00000460623.5:c.546C>T
ENST00000464332.5:n.1099-33C>T
ENST00000498076.5:n.334-33C>T
ENST00000529179.1:n.339-33C>T
NM_001286829.1:c.1516-33C>T	NP_001273758.1:n.1516-33C>T
NM_145201.5:c.1555-33C>T	NP_660202.3:n.1555-33C>T
XM_011517377.1:c.1292-33C>T	XP_011515679.1:n.1292-33C>T
NM_001363145.1:c.1474-33C>T	NP_001350074.1:n.1474-33C>T
NM_001363146.1:c.871-33C>T	NP_001350075.1:n.871-33C>T
XM_017013975.2:c.1826C>T	XP_016869464.1:p.Pro609Leu
XM_017013976.2:c.1774-33C>T	XP_016869465.1:n.1774-33C>T
XM_017013977.2:c.1526C>T	XP_016869466.1:p.Pro509Leu
XM_017013978.2:c.1511-33C>T	XP_016869467.1:n.1511-33C>T
XM_017013979.2:c.923C>T	XP_016869468.1:p.Pro308Leu
XM_024447332.1:c.929-33C>T	XP_024303100.1:n.929-33C>T
XM_024447333.1:c.842C>T	XP_024303101.1:p.Pro281Leu
NM_145201.6:c.1555-33C>T MANE Select	NP_660202.3:n.1555-33C>T
NM_001286829.2:c.1516-33C>T	NP_001273758.1:n.1516-33C>T